The prenatal exome - a door to prenatal diagnostics?

James Castleman, Elizabeth Wall, Stephanie Allen, Denise Williams, Samantha Doyle, Mark Kilby

Research output: Contribution to journalArticlepeer-review

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Introduction: Prenatal exome sequencing (ES) allows parents the opportunity to obtain arapid molecular diagnosis of monogenic etiology when their fetus is found to have structural anomalies detected on prenatal ultrasound. Such information can improve antenatal and neonatal counseling, decision-making and management, and expand reproductive options in subsequent pregnancies.

Areas covered: This review appraises the evidence, from acomprehensive search of bibliographic databases, for the introduction of ES into the fetal medicine care pathway when investigating congenital malformations. The perspectives of clinical geneticists, clinical scientists, fetal medicine specialists, and patients are explored in relation to the novel investigation and the benefits and challenges of its use in ongoing pregnancies with particular reference to UK medical practice.

Expert opinion: ES provides agenetic diagnosis for more than 1 in 10 fetuses with structural differences on ultrasound and normal conventional tests (karyotype or chromosomal microarray) in carefully selected cases. The diagnostic rate increases for certain phenotypes and can range between 6% and 80% where conventional cytogenetics have not detected adiagnosis. Expert oversight is required to ensure that patients receive high-quality, evidence-based care and accurate counseling, supported by amultidisciplinary team familiar with the test and its implications.
Original languageEnglish
Pages (from-to)465-474
JournalExpert review of molecular diagnostics
Issue number5
Early online date20 Apr 2021
Publication statusE-pub ahead of print - 20 Apr 2021


  • Exome
  • fetus
  • genome
  • sequencing


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